✦ LIBER ✦

Somatic and germ line mosaicism and mutation origin for a mutation in theL1 gene in a family with X-linked hydrocephalus

✍ Scribed by Du, Jian-Sheng; Bason, Lynne; Woffendin, Hayley; Zackai, Elaine; Kenwrick, Susan

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 11 KB
Volume: 75
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980113)75:2<200::aid-ajmg16>3.0.co;2-t

No coin nor oath required. For personal study only.

✦ Synopsis

X-linked hydrocephalus is caused by mutations in the gene for neural cell adhesion molecule L1 (L1CAM). In this report, we describe identification of a mutation in an isolated case of hydrocephalus with adducted thumbs. Tracing the origin of the mutation within the family showed a degree of somatic mosaicism in the asymptomatic maternal grandfather of the propositus. This report highlights the need to take mosaicism into account when counselling relatives of affected individuals.

📜 SIMILAR VOLUMES

Novel mutation of theDAX1 gene in a pati

Novel mutation of theDAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

✍ Hamaguchi, Kazuyuki; Arikawa, Masaya; Yasunaga, Seikoh; Kakuma, Tetsuya; Fukagaw 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc

Mosaicism for a full mutation and a norm

Mosaicism for a full mutation and a normal size allele in two fragile X males

✍ Schmucker, Beatrice; Seidel, J�rg 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Confirmation of the clinical diagnosis of fragile X syndrome by molecular tests is based on both the presence of a full mutation and methylation of the promotor region of the FMR1 gene. The mechanism leading to mosaic alleles of repeat number and the role of methylation in this process is still unde

VACTERL with hydrocephalus: Family with

VACTERL with hydrocephalus: Family with X-linked VACTERL-H

✍ Lomas, Fred E.; Dahlstrom, Jane E.; Ford, Judith H. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 34 KB 👁 1 views

We describe in a five generation family four affected males with hydrocephalus (4 offspring/4 examined) due to aqueductal stenosis (3/3), symmetrical radial ray abnormalities (4/4), renal anomalies (2/3), anal atresia (3/4), hypoplastic penis/abnormal testes (2/ 3), and cardiac abnormalities (1/3).

X-linked mental retardation: Evidence fo

X-linked mental retardation: Evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region

✍ Yntema, Helger G.; van den Helm, Bellinda; Knoers, Nine V.A.M.; Smits, Arie P.T. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 40 KB 👁 1 views

We report linkage analysis in a new family with nonspecific X-linked mental retardation, using 27 polymorphic markers covering the entire X-chromosome. We could assign the underlying disease gene, denoted MRX65, to the pericentromeric region, with flanking markers DXS573 in Xp11.3 and DXS990 in Xq21

Family with Pelizaeus-Merzbacher disease

Family with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia and a nonsense mutation in exon 6 of the proteolipid protein gene

✍ Bond, Cherie; Si, Xiaoli; Crisp, Margaret; Wong, Paul; Paulson, George W.; Boese 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 1 views

We report on a C-to-T transition in exon 6 of the PLP gene in a male with Pelizaeus-Merzbacher disease/X-linked spastic paraplegia. The transition changes a glutamine at amino acid residue 233 to a termination codon. This premature stop codon probably results in a truncated protein that is not funct

Mosaicism for the full mutation and a mi

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in theFMR1 gene in eight fragile X patients

✍ Grasso, M.; Faravelli, F.; Nigro, C. Lo; Chiurazzi, P.; Sperandeo, M.P.; Argusti 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 1 views

The molecular mechanism of the fragile X syndrome is based on the expansion of an unstable CGG repeat in the 5 untranslated region of the FMR1 gene in most patients. This expansion is associated with an abnormal DNA methylation leading to the absence of production of FMR1 protein (FMRP). Such expans