Table 2.

Mutations and clinical features in individuals with CdLS

Mutation	Exon	Effect	Clinical features
2G→A (M1K)	2	Altered start codon	Family II: mutation identified in all three affected siblings (who each have a different father) but was not present in their mother or in the two fathers from whom samples were available. All three siblings (an 8-year-old girl and 17-year-old and 3-year-old boys) have moderate growth and cognitive delays, small hands without reduction defects, hirsutism and typical facial features.
150delG	3	Stop codon 28 amino acids downstream	Male child seen at 4.5 months of age with severe bilateral upper limb reduction defects (oligodactyly, single digit), severe growth and cognitive delays, typical facial features, hirsutism and a cleft palate.
1546–1547insG	10	Stop codon 3 amino acids downstream	Female adult seen at 23 years of age with severe growth and cognitive delays, reduction defect of the right limb (oligodactyly, four digits) and small left hand with no reduction defect, typical facial features, hirsutism, cleft palate and hearing loss.
2520delT	10	Stop codon 5 amino acids downstream	Male child seen at 3.5 years of age with severe growth and cognitive delays, small hands with no reduction defects, typical facial features, hirsutism, undescended testes and bilateral sensorineural hearing loss.
3023–3027delTGTCT	10	Stop codon 1 amino acid downstream	Female child seen at 10 years of age with severe growth and cognitive delays severe bilateral upper limb reduction defects (oligodactyly, single digit), hirsutism and typical facial features.
6735+5 G→T	39	Splice site disruption	Family XXI: mutation identified in the two affected siblings but neither parent. The two siblings, a 6-year-old boy and a 5-year-old girl, both have growth and cognitive delays, small hands without reduction defects, typical facial features and hirsutism.