Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

Matsumoto, Naomichi; Pilz, Daniela T.; Fantes, Judith A.; Kittikamron, Kirk; Ledbetter, David H.

doi:10.1136/jmg.35.10.829

Cited by 8 publications

(10 citation statements)

References 17 publications

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“…STSs were either collected from the Human BAC End data base (www. tigr.org/tdb/humgen/bac _ end _ search/bac _ end _ intro.html) or created from BAC end sequencing as described previously [Matsumoto et al, 1998]. …”

Section: Construction Of a High-resolution Physical Map Covering Micrmentioning

confidence: 99%

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

et al. 2003

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Sotos syndrome (SoS) is an autosomal dominant overgrowth syndrome with characteristic craniofacial dysmorphic features and various degrees of mental retardation. We previously showed that haploinsufficiency of the NSD1 gene is the major cause of SoS, and submicroscopic deletions at 5q35, including NSD1, were found in about a half (20/42) of our patients examined. Since the first report, an additional 70 SoS cases consisting of 53 Japanese and 17 non-Japanese have been analyzed. We found 50 microdeletions (45%) and 16 point mutations (14%) among all the 112 cases. A large difference in the frequency of microdeletions between Japanese and non-Japanese patients was noted: 49 (52%) of the 95 Japanese patients and only one (6%) of the 17 non-Japanese had microdeletions. A sequence-based physical map was constructed to characterize the microdeletions. Most of the microdeletions were confirmed to be identical by FISH analysis. We identified highly homologous sequences, i.e., possible low copy repeats (LCRs), in regions flanking proximal and distal breakpoints of the common deletion, This suggests that LCRs may mediate the deletion. Such LCRs seem to be present in different populations. Thus the different frequency of microdeletions between Japanese and non-Japanese cases in our study may have been caused by patient-selection bias.

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Section: Construction Of a High-resolution Physical Map Covering Micrmentioning

confidence: 99%

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

et al. 2003

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“…A standard blood chromosome analysis (400-550 bands resolution) is warranted in all patients with classical lissencephaly. Three cases have been reported of patients with classical lissencephaly due to a chromosomal reciprocal translocation [39][40][41] . About 60% of patients with MDS show a cytogenetically visibile deletion, and a few of them show a different chromosome rearrangement (translocation, ring chromosome).…”

Section: Laboratory Investigationsmentioning

confidence: 99%

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

Guerrini¹,

Carrozzo²

2001

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We review here those malformations of the cerebral cortex which are most often observed in epilepsy patients, for which a genetic basis has been elucidated or is suspected and give indications for genetic testing. There are three forms of lissencephaly (agyria-pachygyria) resulting from mutations of known genes, which can be distinguished because of their distinctive imaging features. They account for about 85% of all lissencephalies. Lissencephaly with posteriorly predominant gyral abnormality is caused by mutations of the LIS1 gene on chromosome 17. Anteriorly predominant lissencephaly in hemizygous males and subcortical band heterotopia (SBH) in heterozygous females are caused by mutations of the XLIS(or DCX) gene. Mutations of the coding region of XLIS were found in all reported pedigrees, and in most sporadic female patients with SBH. Missense mutations of both LIS1 and XLIS genes have been observed in some of the rare male patients with SBH. Autosomal recessive lissencephaly with cerebellar hypoplasia has been associated with mutations of the reelin gene. With few exceptions, children with lissencephaly have severe developmental delay and infantile spasms early in life. Patients with SBH have a mild to severe mental retardation with epilepsy of variable severity and type. X-linked bilateral periventricular nodular heterotopia (BPNH) consists of typical BPNH with focal epilepsy in females and prenatal lethality in males. About 88% of patients have focal epilepsy. Filamin A (FLNA) mutations have been reported in some families and in sporadic patients. Additional, possibly autosomal recessive gene(s) are likely to be involved in causing BPNH non-linked to FLN1. Tuberous sclerosis (TS) is a dominant disorder caused by mutations in at lest two genes, TSC1 and TSC2. 75% of cases are sporadic. Most patients with TS have epilepsy. Infantile spasms are a frequent early manifestation of TS. Schizencephaly (cleft brain) has a wide anatomo-clinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Heterozygous mutations in the EMX2 gene have been reported in some patients. However, at present, there is no clear indication on the possible pattern of inheritance and on the practical usefulness that mutation detection in an individual with schizencephaly would carry in terms of genetic counselling. Amongst several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria had familial occurrence on several occasions. Genetic heterogeneity is likely, including autosomal recessive, X-linked dominant, X-linked recessive inheritance and association to 22q11.2 deletions. FISH analysis for 22q11.2 is advisable in all patients with perisylvian polymicrogyria. Parents of an affected child with normal karyotype should be given up to a 25% recurrence risk.

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“…Subsequently, this approach has been applied to other X-linked disease genes, e.g. X-linked lissencephaly (Matsumoto et al 1998), and at least one form of X-linked mental retardation (Zemni et al 2000). Mattei et al (1982) systematically reviewed X inactivation in X-autosome (X-aut) balanced carriers.…”

Section: Introductionmentioning

confidence: 99%

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories

et al. 2001

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Females with balanced X-autosome translocations are a clinically heterogeneous group of patients in which X breakpoint position and replication behaviour may influence phenotypic outcome. This study reviewed all cases reported by UK cytogenetics laboratories over a 15-year period (1983-1997). Publication bias was avoided by reviewing all reported cases. One hundred and four female carriers were identified, 62 of who were probands. By reason for referral, these were: multiple congenital abnormalities and/or developmental delay (MCA/DD): 26 (42%); gonadal dysfunction: 22 (35%); phenotypically normal with or without recurrent miscarriage (NRM): 9 (15%); recognized X-linked syndrome: 5 (8%). The information obtained was compared with published data and with data from the authors' own laboratories of female patients with balanced autosome-autosome translocations (n=115). We concluded that: (1) MCA/DD cases were significantly over-represented compared to previous published data (P<0.005) and were more common than in female probands with balanced autosome-autosome translocations (P<0.05). (2) MCA/DD cases showed random breakpoint distribution along the X chromosome (P>0.05). MCA/DD cases with subtelomeric breakpoints at Xp22 or Xq28 were not always associated with deviation from the expected pattern of X-inactivation where this was known. De novo cases were significantly more likely to be assigned as MCA/DD than any other category (P<0.005). (3) Gonadal dysfunction (GD) was invariably associated with a 'critical region' breakpoint, Xq13-q26, (20/22 probands). However, 7/44 (16%) of patients surveyed had breakpoints within Xq13-Xq26 and proven fertility. (4) Recognized 'X-linked syndrome' cases were significantly under-represented (P<0.001) compared to previous published data.

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Isolation of BAC clones spanning the Xq22.3 translocation breakpoint in a lissencephaly patient with a de novo X;2 translocation.

Cited by 8 publications

References 17 publications

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories

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