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Literature DB >> 10762554

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

G N Kavaslar¹, S Onengüt, O Derman, A Kaya, A Tolun.

Abstract

We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.

Entities: Disease Gene Species

Mesh：

Year: 2000 PMID： 10762554 PMCID： PMC1378027 DOI： 10.1086/302898

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

12 in total

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Journal: Lancet Date: 1968-09-14 Impact factor: 79.321

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Journal: Proc Natl Acad Sci U S A Date: 1991-04-15 Impact factor: 11.205

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8 in total

1. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

Authors: Ayse Corut; Abdurrahman Senyigit; Sibel Aylin Ugur; Sedat Altin; Ugur Ozcelik; Haluk Calisir; Zeki Yildirim; Ayhan Gocmen; Aslihan Tolun
Journal: Am J Hum Genet Date: 2006-08-29 Impact factor: 11.025

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

1. A simple salting out procedure for extracting DNA from human nucleated cells.

2. Evidence for a major gene in familial anencephaly.

3. Anencephaly: a vanishing problem in Bedouins?

4. Genetics of anencephaly and spina bifida?

5. Cloning of a leucine-zipper protein recognized by the sera of patients with antibody-associated paraneoplastic cerebellar degeneration.

6. mu-crystallin is a mammalian homologue of Agrobacterium ornithine cyclodeaminase and is expressed in human retina.

7. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children.

8. Overexpression of a transporter gene in a multidrug-resistant human lung cancer cell line.

9. Nonsyndromal anencephaly: possible autosomal recessive variant.

10. The anthracycline resistance-associated (ara) gene, a novel gene associated with multidrug resistance in a human leukaemia cell line.

1. Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis.

2. Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly.

Review 3. A developmental and genetic classification for malformations of cortical development: update 2012.

4. Ribosomal protein gene knockdown causes developmental defects in zebrafish.

Review 5. Emerging roles of Axin in cerebral cortical development.

Review 6. Time is of the essence: the molecular mechanisms of primary microcephaly.

Review 7. Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review.

8. Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.