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Clinical and genetic analysis of patients with vitamin D-dependent rickets type 1A.

Abstract：

CONTEXT:Vitamin D-dependent rickets type 1A (VDDR-IA, OMIM 264700) is a rare autosomal recessive disorder and is caused by mutations in the CYP27B1 gene. OBJECTIVES:We aim to investigate CYP27B1 mutation in seven patients from four separate families and characterize the genotype-phenotype correlation. METHODS:The entire coding region of the CYP27B1 gene was sequenced, and genotype-phenotype correlation among patients was assessed. RESULTS:Sequencing analysis identified biallelic CYP27B1 mutations in all patients and monoallelic mutations in their parents. One patient from the first family was compound heterozygous for c.1166G>A (p.Arg389His) and a novel nonsense mutation c.1079 C>A (p.Ser360*). Two patients from the second family were homozygous for a novel splice donor site mutation in intron 1 (c.195 + 2 T>G), causing partial retention of the intron and a shift in the reading frame. Both novel mutations lead to the complete loss of vitamin D1α-hydroxylase activity. Four patients from families 3 and 4 were homozygous for a previously reported duplication mutation in exon 8 (1319-1325dupCCCACCC, Phe443Profs*24). Interestingly, one patient who was presented with severe hypocalcaemia and seizures at 4 months of age as a result of Phe443Profs*24 has improved spontaneously since 11 years of age and does not need regular treatment. Her laboratory tests showed normal serum calcium and 1,25(OH)(2) D after refusing to take medication for 12 months. CONCLUSIONS:There is a good genotype-phenotype correlation in VDDR-IA. However, some patients may recover from the loss of CYP27B1 function, probably due to 1α-hydroxylase activity exerted by a non-CYP27B1 enzyme.

journal_name

Clin Endocrinol (Oxf)

journal_title

Clinical endocrinology

authors

Durmaz E,Zou M,Al-Rijjal RA,Bircan I,Akçurin S,Meyer B,Shi Y

doi

10.1111/j.1365-2265.2012.04394.x

subject

Has Abstract

pub_date

2012-09-01 00:00:00

pages

363-9

issue

3

eissn

0300-0664

issn

1365-2265

journal_volume

77

pub_type

杂志文章

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