Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous

Suzuki, Katsuhiro; Nakamura, Makoto; Amano, Emi; Mokuno, Kenji; Shirai, Shoichiro; Terasaki, Hiroko

doi:10.1002/ajmg.a.31085

Cited by 23 publications

(15 citation statements)

References 44 publications

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“…Therefore, the derivative 6p in the present child actually designates partial monosomy 6p23 and partial trisomy 10q24 rearranged on 6p. The most of the reported cases had mild to moderate facial or craniofacial dysmorphism coupled with congenital heart defect, ocular anomalies, joint dislocation, or renal defects [11–13]. In the present family, the mother was carrying the constitutive balanced translocation and though she had some bilateral depression on the upper segment of her face, she did not have any other significant facial dysmorphism (Figure 1).…”

Section: Discussionmentioning

confidence: 67%

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Ganguly

Kadam

2011

Case Reports in Genetics

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Unbalanced chromosomal rearrangements are not common; however, they have a significant clinical expression. The parental balanced translocation produces unbalanced chromosome, which is transmitted to next generation through fertilization of gametes carrying the derivative chromosome. The carriers of balanced rearrangements mostly do not have recognizable phenotypic expression. We report a family comprising of healthy and non-consanguineous young parents and their preemie newborn severely affected with congenital anomalies and systemic disorders. Conventional Gbanding analysis of somatic chromosomes identified a balanced translocation, t(6;10)(p23;q24), in mother and an unbalanced rearrangement, der(6)t(6:10)(p23;q24)mat, in the child. The child has inherited a derivative chromosome 6 with partial deletion of 6(p23-pter) and partial trisomy 10(q24-qter), which has resulted in fusion of genes of two different chromosomes. The prominent phenotypic features of del(6p), including high forehead, flat nasal bridge, agenesis of left ear, atrial septal defect (ASD), craniosynostosis, and growth retardation, are overlapping with specific Axenfeld-Reiger-, Larsen-, and Ritscher-Sinzel/3-C syndromes, however, lacking in ocular anomalies, skeletal laxity, or cerebellar malformation. Therefore, this paper rules out the isolated effect of del(6p23) or trisomy 10(q24) on distinct previously reported syndromes and proposes the combined effect of unbalanced chromosomal alteration.

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Section: Discussionmentioning

confidence: 67%

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Ganguly

Kadam

2011

Case Reports in Genetics

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“…Family‐based studies, traditional genetic methods using linkage analysis, and current advances in molecular genetics have identified 2 major ARS genes, PITX2 (4q25, RefSeq NM 000325.5, MIM# 601542) and FOXC1 (6p25, RefSeq NM 001453.2, MIM# 601090), revealing a wide spectrum of mutations, which assists in the molecular diagnosis of the ARS type 1 and type 3, respectively . In addition to small point mutations, several patients with chromosomal deletions at 6p25, including the FOXC1 locus, have been also reported in the literature . As well, deletions within 4q, including PITX2 , have also been reported in ARS patients .…”

Section: The Genetic Basis Of Arsmentioning

confidence: 99%

“…10 In addition to small point mutations, several patients with chromosomal deletions at 6p25, including the FOXC1 locus, have been also reported in the literature. [11][12][13][14][15][16][17][18][19][20][21] As well, deletions within 4q, including PITX2, have also been reported in ARS patients. 22,23 It has also been reported that deletion of 13q14, supported by linkage analyses, can cause ARS type 2; however, mutations in a causative gene are yet to be identified.…”

Section: The Genetic Basis Of Arsmentioning

confidence: 99%

Axenfeld‐Rieger syndrome

2018

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Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes, including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal-dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Here, an overview of the clinical spectrum of ARS is provided. As well, the known underlying genetic defects, clinical diagnostic possibilities, genetic counseling and treatments of ARS are discussed in detail.

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“…Several patients with 6p terminal deletions have been reported [Kume et al, 1998; Law et al, 1998; Nishimura et al, 1998; Baruch and Erickson, 2001; Lehmann et al, 2002; Anderlid et al, 2003; Maclean et al, 2005; Suzuki et al, 2006; Martinez‐Glez et al, 2007; Martinet et al, 2008]. Recently, Gould et al [2004] and Lin et al [2005] summarized the phenotypes of patients with 6p25 deletions, showing that these patients exhibited a recognizable pattern of malformations, namely 6p25 deletion syndrome.…”

Section: Discussionmentioning

confidence: 99%

Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

Tonoki

Harada

Shimokawa

et al. 2011

American J of Med Genetics Pt A

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Clinical phenotypes of and genetic aberrations in three unrelated Japanese patients with Axenfeld-Rieger anomalies and various accompanying malformations of systemic organs are described. GTG-banded chromosome analysis showed terminal deletions of the short arm of chromosome 6 in two patients and an inversion, inv(6)(p25q14), in the other. FISH and DNA array analyses revealed that the two patients with deletions had 5.0-5.7 Mb and 6.6 Mb 6p terminal deletions, respectively, and FOXC1 was apparently deleted in both patients. In the other patient, the inversion breakpoint at 6p25 was estimated to be in or very close to the FOXC1 locus, but DNA array analysis did not reveal a deletion around the breakpoint. Common extraocular findings in these patients included broad forehead, brachycephaly, hypertelorism, downslanting palpebral fissures, small anteverted nose, and cardiac defects. Two patients also exhibited autistic characteristics. The two patients with deletions exhibited poor muscle tone and developmental delays. Most of these extraocular findings were similar to those found in previous patients with FOXC1 mutations and distinct from those found in patients with PITX2 mutations, who frequently develop umbilical and dental anomalies. We suggest that the psychomotor retardation is a clinical manifestation associated with a deletion of multiple contiguous genes in the 6p terminus and that this phenomenon is similar to the 6p25 deletion syndrome. Understanding the relationship between genetic lesions and the spectrum of extraocular findings in patients with Axenfeld-Rieger anomalies may lead to better clinical management.

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Case of chromosome 6p25 terminal deletion associated with Axenfeld–Rieger syndrome and persistent hyperplastic primary vitreous

Cited by 23 publications

References 44 publications

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Clinical Expression of an Inherited Unbalanced Translocation in Chromosome 6

Axenfeld‐Rieger syndrome

Axenfeld–Rieger anomaly and Axenfeld–Rieger syndrome: Clinical, molecular‐cytogenetic, and DNA array analyses of three patients with chromosomal defects at 6p25

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