Ocular albinism in a male with del (6)(q13–q15): Candidate region for autosomal recessive ocular albinism?

Rose, Nancy C.; Menacker, Sheryl J.; Schnur, Rhonda E.; Jackson, Laird; McDonald‐McGinn, Donna M.; Stump, Tammy; Emanuel, Beverly S.; Zackai, Elaine H.

doi:10.1002/ajmg.1320420515

Cited by 23 publications

(14 citation statements)

References 19 publications

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“…A deletion involving the region 6q13-15 (where HTR 1B maps) was reported to cause abnormal brain development, congenital abnormalities and delayed development. 35 A possible parent of origin effect in the development of psychiatric and complex disorders has not been fully explored, but the preferential transmission of the HTR 1B G861 from fathers to their ADHD offspring in the current investigation may reflect the involvement of genomic imprinting. Evidence of imprinting has been reported on chromosome 6q27, a locus which contributes to the development of IDDM8.…”

Section: Molecular Psychiatrymentioning

confidence: 88%

Serotonergic system and attention deficit hyperactivity disorder (ADHD): a potential susceptibility locus at the 5-HT1B receptor gene in 273 nuclear families from a multi-centre sample

et al. 2002

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Attention deficit hyperactivity disorder (ADHD) is a highly heritable and heterogeneous disorder, which usually becomes apparent during the first few years of childhood. Imbalance in dopamine neurotransmission has been suggested as a factor predisposing to ADHD. However, evidence has suggested an interaction between dopamine and serotonin systems in the pathophysiology of the disorder. Studies using selective agonists of the different 5-HT receptors microinjected into selected brain structures have shown a positive modulating effect on the functional activities of the mesotelencephalic dopaminergic system. This suggests that some of the genetic predisposition to ADHD might be due to DNA variation at serotonin system genes. In this study, we investigated polymorphisms in HTR 1B and HTR 2A (which encode the serotonin receptors 5-HT 1B and 5-HT 2A respectively) in a European ADHD sample. Using haplotype based haplotype relative risk (HHRR) and transmission disequilibrium test (TDT) analyses, we observed significant preferential transmission of the allele 861G of the HTR 1B in the total sample (for HHRR; 2 = 7.4, P = 0.0065 and TDT; ( 2 = 6.4, P = 0.014). Analysis of HTR 2A failed to reveal evidence of association or linkage between the His452Tyr polymorphism and ADHD in the total sample. However, a significantly increased transmission of the allele 452His was observed in the Irish sample alone ( 2 = 4.9, P = 0.026). These preliminary data suggest an important role for the serotonin system in the development of ADHD. Further studies, preferentially including different ethnic groups are required to substantiate these findings.

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Section: Molecular Psychiatrymentioning

confidence: 88%

Serotonergic system and attention deficit hyperactivity disorder (ADHD): a potential susceptibility locus at the 5-HT1B receptor gene in 273 nuclear families from a multi-centre sample

et al. 2002

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“…All patients in group A with dermatoglyphic analysis had abnormal findings, the most common being an excess of whorls. Two patients with proximal deletions had tracheo-esophageal fistula [McNeal et al, 1977;Rose et al, 1992]. This has not been reported with more distal 6q deletions.…”

Section: Deletions: 6q11 To 6q16 (Group A)mentioning

confidence: 91%

“…We reviewed 12 cases (including case 1) with proximal deletions of 6q [DiLernia and Albertini, 1994;Gershoni-baruch et al, 1996;Lonardo et al, 1988;McNeal et al, 1977;Roland et al, 1993;Romie et al, 1996;Rose et al, 1992;Slater et al, 1987;Turleau et al, 1988;Valtat et al, 1992;Yamamoto et al, 1986;Young et al, 1985]; 86% had upslanting palpebral fissures. This finding was also present in 23% of more distal deletions of 6q.…”

Section: Deletions: 6q11 To 6q16 (Group A)mentioning

confidence: 99%

“…Despite 57 case reports of deletions of the long arm of chromosome 6, there is little indication in the literature of phenotypic correlations with deletions of specific regions of chromosome 6q [Bartoshesky et al, 1978;Bzdú ch and Lukáčová , 1989;Chery et al, 1989;Cote et al, 1981;Dallapiccola et al, 1978;DiLernia and Albertini, 1994;Fryns et al, 1986Fryns et al, , 1991 Gershonibaruch et al, 1996;Glover et al, 1988;Goldberg et al, 1980;Hagameijer et al, 1977;Horigome et al, 1991;Ito et al, 1989;Kassikoff and Sekhon, 1990;Kueppers et al, 1977;Liberfarb et al, 1978;Lonardo et al, 1988;Matkins et al, 1985;McLeod et al, 1990;McNeal et al, 1977;Meng et al, 1992;Mikkelsen et al, 1973;Milošević and Kaličanin, 1975;Nakagome et al, 1980;Narahara et al, 1991;Oliveira-Duarte et al, 1990;Pandya et al, 1995;Park et al, 1988;Rivas et al, 1986;Roland et al, 1993;Romie et al, 1996;Rose et al, 1992;Scarsbrough et al, 1984;Schwartz et al, 1984; ShenSchwartz et al, 1989; Schnizel, 1984; Slate et al, 1987;Stevens et al, 1988;Tajara et al, 1990;Tranebjaerg et al, 1986;Turleau et al, 1988;…”

Section: Introductionmentioning

confidence: 99%

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New insights into the phenotypes of 6q deletions

Hopkin

Schorry²,

Bofinger³

et al. 1997

Am. J. Med. Genet.

102

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Deletions of chromosome 6q are rare. We report 3 new patients with 6q deletions. Case 1 is a male with an interstitial deletion [del(6)(q13q14.2)], hypotonia, speech delays, and minor anomalies. Case 2 is a male with an interstitial deletion [del(6)(q16.2q22.32)] and malformations, including truncus arteriosus and bilateral oligodactyly. Case 3 is a male with a terminal deletion [del(6)(q25.2)] with retinal pits, hydrocephalus, atrioventricular canal, and hydronephrosis. The findings in our patients and those from 57 previously reported cases demonstrated 3 phenotypic groups associated with 6q deletions. Group A [del(6)(q11-q16)] had a high incidence of hernias, upslanting palpebral fissures, and thin lips with lower frequency of microcephaly, micrognathia, and heart malformations. Group B [del(6)(q15-q25)] was associated with increased intrauterine growth retardation, abnormal respiration, hypertelorism, and upper limb malformations. Group C [del(6)(q25-qter)] was associated with retinal abnormalities, cleft palate, and genital hypoplasia. The only universal finding among all patients with 6q deletions was mental retardation. Other findings common to all 3 groups included ear anomalies (90%), hypotonia (82%), and postnatal growth retardation (68%).

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“…Interstitial deletions of the proximal long arm of human chromosome 6 between 6q11 and 6q16 appear to be uncommon. Only 15 patients with deletions in this region have been recorded (McNeal et al, 1977;Young et al, 1985;Cerrillo et al, 1985;Yamamoto et al, 1986;Lonardo et al, 1988;Turleau et al, 1988;Slater et al, 1988;Valtat et al, 1992, two patients; Rose et al, 1992;Roland et al, 1993;GershoniBaruch et al, 1996;Romie et al, 1996;Kumar et al, 1997;Hopkin et al, 1997). Except for the patients described by Gershoni- Baruch et al (1996), Kumar et al (1997), and Hopkin et al (1997), the deletions in these patients involve different regions between 6q11 and 6q16.…”

mentioning

confidence: 99%

A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)

Passarge

2000

Cytogenet Genome Res

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This report describes a nearly 25-year-old female with an interstitial deletion of band 14 in the long arm of one chromosome 6 (6q14). The deletion is contained within a de novo pericentric inversion with breakpoints in 6p11.2 and 6q15 (Karyotype 46,XX, del(6)(q13q15),inv(6)(p11.2q15). The distal breakpoint of the deletion and the pericentric inversion at 6q15 are the same, but the proximal breakpoints differ. Since cells with other chromosomal findings were not detected in cultured lymphocytes and fibroblasts, chromosome mosaicism seems unlikely. Thus, it is assumed that the inversion and the deletion originated from the same event. The development of a distinctive phenotype in the patient was observed over a period of 22 years. It includes characteristic dysmorphic facial features such as ocular hypertelorism, flat nasal bridge, prominent zygomatic bones, and a depressed glabella. A striking, non-progressive deficit of motor control is manifest in an inability to use her hands properly and a broad-based slow-motion-like gait. Although severely deficient in abstract mental abilities and speech development, she is well adapted to family life and to a school for retarded individuals. Normal height and head circumference, and reduced sensitivity to pain are noteworthy. Presumably the deletion caused the phenotype and the distinct behavioral pattern. This patient probably represents a novel chromosomal phenotype that results from aggregate haploinsufficiency of gene loci in the deleted region.

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Ocular albinism in a male with del (6)(q13–q15): Candidate region for autosomal recessive ocular albinism?

Cited by 23 publications

References 19 publications

Serotonergic system and attention deficit hyperactivity disorder (ADHD): a potential susceptibility locus at the 5-HT1B receptor gene in 273 nuclear families from a multi-centre sample

Serotonergic system and attention deficit hyperactivity disorder (ADHD): a potential susceptibility locus at the 5-HT1B receptor gene in 273 nuclear families from a multi-centre sample

New insights into the phenotypes of 6q deletions

A distinctive phenotype associated with an interstitial deletion 6q14 contained within a de novo pericentric inversion 6 (p11.2q15)

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