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Article

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Human mutation - 1 Jun 2007

Frank Valeska, Ortiz Brüchle Nadina, Mager Silke, Frints Susanna G M, Bohring Axel, du Bois Gabriele, Debatin Irmgard, Seidel Heide, Senderek Jan, Besbas Nesrin, Todt Unda, Kubisch Christian, Grimm Tiemo, Teksen Fulya, Balci Sevim, Zerres Klaus, Bergmann Carsten

Abstract excerpt

Meckel-Gruber syndrome (MKS) is an autosomal recessive, usually lethal multisystemic disorder characterized by early developmental anomalies of the central nervous system, cystic kidney dysplasia, hepatobiliary ductal plate malformation, and postaxial polydactyly. Three MKS loci have been mapped and recently, two genes were identified: MKS1 on 17q22 in Caucasian kindreds and MKS3 on 8q22 in Omani and Pakistani...

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Source

Identifiers

PMID: 17437276
DOI: 10.1002/humu.9496

Genes

MKS1

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Source receipt: pubmed, retrieved 7 Sept 2026.

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