The α1A voltage-dependent calcium-channel (Cav2.1) gene, the causative gene for spinocerebellar ataxia type 6 (SCA6), is transcribed into two major mRNA isoforms by alternative splicing at the intron 46 exon 47 boundary.
We identify the causative gene for 33 lines, including novel genes in pathways not previously connected to craniofacial development, and novel alleles of known genes that present with unique phenotypes.
STXBP2 is a newly identified causative gene for FHL5.
MAMLD1 is known to be a causative gene for hypospadias.
Whether NIPBL is indeed the causative gene for CdLS associated diaphragm defects needs to be determined.
PQBP1 is a causative gene for X-linked mental retardation (MR) whose patients frequently show lean body.
Mutations of the newly identified causative gene for FHL5, STXBP2, and the cytotoxicity and degranulation activity of CTLs in FHL patients, were analyzed.
Subsequently, PQBP1 was identified as a causative gene for a group of mental retardation including Renpenning syndrome, Golabi-Ito-Hall and the Sutherland-Haan syndromes as well as non-symptomatic X-linked mental retardation with no anomaly [6] [8].
MAMLD1 (mastermind-like domain containing 1, alias CXorf6) on human chromosome Xq28 is a causative gene for hypospadias, a mild form of 46,XY disorders of sex development (DSD) [1].
WFS1 was initially identified as a causative gene for Wolfram syndrome, a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness [16], [17], [18].
The causative gene for PFIC1/BRIC1 was also included in our analysis.
