[Gene mutation analysis of a collodion baby].

[lamellar ichthyosis]

To determine the mutations pattern of the genes of a collodion baby .Collodion baby is a genetic heterogeneous disease caused by mutations of several genes . Since the most common mutations were observed in TGM 1 gene , this gene was chosen for mutation screening . The screening was carried out by PCR and direct sequencing . The allele specific primers were designed for a missense mutation and allele-specific (AS ) PCR was carried out in 50 normal individuals for population study .Three novel alterations were detected in TGM 1 gene of the proband , a missense mutation c .463 C > T (p .Arg 155 T rp ) in exon 3 , a nonsense mutation c .578 G > A (p .Trp 193 X ) in exon 4 , and a single nucleotide deletion (c .694 delG ) also in exon 4 of TGM 1 gene . This infant 's father was heterozygote of c .694 delG mutation , while his mother carried the two mutations (c .463 C > T and c .578 G > A ) on the same chromosome . The missense mutation was not detected in his father and in any of the control individuals by AS-PCR .Three novel mutations were identified in TGM 1 gene in a Chinese collodion baby . A double mutation (c .463 C > T and c .578 G > A ) located on the maternal allele while the c .694 delG deletion on the paternal allele .

Diseases
Validation

Diseases presenting "single nucleotide deletion" symptom

adrenomyeloneuropathy

lamellar ichthyosis

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