ClinVar Genomic variation as it relates to human health

In affected members of 2 unrelated consanguineous Pakistani families with autosomal recessive hypotrichosis (604379), Jelani et al. (2008) identified a homozygous 2-bp deletion (659delTA) in exon 5 of the LIPH gene, predicted to result in premature termination and nonsense-mediated mRNA decay. Affected individuals were nearly devoid of normal eyebrows, eyelashes, axillary hair, and body hair. Adult males had normal beard hair but sparse scalp hair. There were no other clinical abnormalities. In affected individuals from 3 consanguineous Pakistani families, including 1 with woolly hair (ARWH2; see 604379), 1 with woolly hair and hypotrichosis (WH/HT; see 604379), and 1 with hypotrichosis alone, Shimomura et al. (2009) identified homozygosity for the 659delTA mutation in the LIPH gene. The mutation was not found in 100 unrelated Pakistani controls. In affected individuals from 2 large unrelated consanguineous Pakistani families with woolly hair/hypotrichosis, Petukhova et al. (2009) identified homozygosity or compound heterozygosity for the 659delTA mutation and a 90-bp duplication (607365.0006) in the LIPH gene. Affected individuals were either homozygous for the deletion or the duplication, or compound heterozygous for both; unaffected individuals either had no mutation or carried 1 of the mutations in heterozygous state. The mutation was not found in 100 unrelated Pakistani controls. In 6 Pakistani families with the hypotrichosis/woolly hair phenotype, Khan et al. (2011) identified homozygosity for the 659delTA mutation in the LIPH gene. Affected members from 3 of the families had features of hypotrichosis, whereas in 2 of the families they had sparse, woolly scalp hair with sparse to absent hair on the remainder of the body; in the remaining family, the phenotype was mixed, with some affected members exhibiting features of hypotrichosis and others having woolly scalp hair. Haplotype analysis in these families, which belonged to different ethnic groups from various regions of Pakistan, suggested that the 2-bp deletion was a founder mutation. (less)

In affected members of 2 unrelated consanguineous Pakistani families with autosomal recessive hypotrichosis (604379), Jelani et al. (2008) identified a homozygous 2-bp deletion (659delTA) in exon 5 of the LIPH gene, predicted to result in premature termination and nonsense-mediated mRNA decay. Affected individuals were nearly devoid of normal eyebrows, eyelashes, axillary hair, and body hair. Adult males had normal beard hair but sparse scalp hair. There were no other clinical abnormalities. In affected individuals from 3 consanguineous Pakistani families, including 1 with woolly hair (ARWH2; see 604379), 1 with woolly hair and hypotrichosis (WH/HT; see 604379), and 1 with hypotrichosis alone, Shimomura et al. (2009) identified homozygosity for the 659delTA mutation in the LIPH gene. The mutation was not found in 100 unrelated Pakistani controls. In affected individuals from 2 large unrelated consanguineous Pakistani families with woolly hair/hypotrichosis, Petukhova et al. (2009) identified homozygosity or compound heterozygosity for the 659delTA mutation and a 90-bp duplication (607365.0006) in the LIPH gene. Affected individuals were either homozygous for the deletion or the duplication, or compound heterozygous for both; unaffected individuals either had no mutation or carried 1 of the mutations in heterozygous state. The mutation was not found in 100 unrelated Pakistani controls. In 6 Pakistani families with the hypotrichosis/woolly hair phenotype, Khan et al. (2011) identified homozygosity for the 659delTA mutation in the LIPH gene. Affected members from 3 of the families had features of hypotrichosis, whereas in 2 of the families they had sparse, woolly scalp hair with sparse to absent hair on the remainder of the body; in the remaining family, the phenotype was mixed, with some affected members exhibiting features of hypotrichosis and others having woolly scalp hair. Haplotype analysis in these families, which belonged to different ethnic groups from various regions of Pakistan, suggested that the 2-bp deletion was a founder mutation. (less)