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伴有膈神经麻痹的新生儿脊髓性肌萎缩与5q11.2-q13无关。

Neonatal spinal muscular atrophy with diaphragmatic paralysis is unlinked to 5q11.2-q13.

作者信息

Novelli G, Capon F, Tamisari L, Grandi E, Angelini C, Guerrini P, Dallapiccola B

机构信息

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

出版信息

J Med Genet. 1995 Mar;32(3):216-9. doi: 10.1136/jmg.32.3.216.

DOI:10.1136/jmg.32.3.216
PMID:7783173
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1050321/
Abstract

Two sibs affected by the severe neonatal form of spinal muscular atrophy (SMA) with diaphragmatic paralysis are described. The two sibs were discordant for the haplotypes determined by DNA markers flanking the SMA locus. This supports non-linkage of SMA to chromosome 5 in this family and indicates that the uncommon SMA type I variant associated with early onset respiratory failure maps outside the 5q11.2-q13.3 region.

摘要

本文描述了两名患有严重新生儿型脊髓性肌萎缩症（SMA）并伴有膈肌麻痹的同胞。这两名同胞在由SMA基因座侧翼的DNA标记确定的单倍型上不一致。这支持了该家族中SMA与5号染色体不连锁，并表明与早发性呼吸衰竭相关的罕见SMA I型变异位于5q11.2-q13.3区域之外。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/a13d384e7c25/jmedgene00270-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/37865d4d5743/jmedgene00270-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/2d6559bfa0ca/jmedgene00270-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/c009a19b7322/jmedgene00270-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/a13d384e7c25/jmedgene00270-0060-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/37865d4d5743/jmedgene00270-0058-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/2d6559bfa0ca/jmedgene00270-0059-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/c009a19b7322/jmedgene00270-0059-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b146/1050321/a13d384e7c25/jmedgene00270-0060-a.jpg

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引用本文的文献

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Diaphragmatic spinal muscular atrophy with respiratory distress is heterogeneous, and one form Is linked to chromosome 11q13-q21.伴有呼吸窘迫的膈部脊髓性肌萎缩具有异质性，其中一种类型与11号染色体q13-q21区域相关。
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Molecular diagnosis of spinal muscular atrophy.

本文引用的文献

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Prenatal diagnosis of the acute form of proximal spinal muscular atrophy: experience on the acceptance of linkage analyses by the families.
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An investigation of genetic heterogeneity and linkage disequilibrium in 161 families with spinal muscular atrophy.
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