Choanal Atresia And Lymphedema

A number sign (#) is used with this entry because of evidence that choanal atresia and lymphedema (CATLPH) is caused by homozygous mutation in the PTPN14 gene (603155) on chromosome 1q32-q41.

Clinical Features

Qazi et al. (1982) reported a consanguineous Yemenite family in which a brother and sister and their paternal aunt had posterior choanal atresia. The boy also had a high-arched palate, hypoplastic nipples, and mild pectus excavatum, and the aunt had a high-arched palate. All 4 parents of the 3 affected persons could be traced to a common ancestral couple 2 or 3 generations earlier.

Har-El et al. (1991) provided follow-up of the family reported by Qazi et al. (1982). The boy and his paternal aunt from the original report both developed lymphedema of the lower extremities at age 5 years. The sister had died at age 5 months. Three additional family members with both choanal atresia and lower extremity lymphedema were identified.

Bordbar et al. (2017) reported a 2-year-old Iranian girl born to first-cousin parents. She presented with intrauterine growth restriction and severe respiratory distress at birth and was diagnosed with bilateral choanal atresia. Dysmorphic features included hypertelorism, broad forehead, smooth philtrum, unilateral low-set ear, high-arched palate, and small nipples. Transient hypothyroidism resolved by 1 year of age. She had a small muscular ventricular septal defect (VSD). At 2 months she developed swelling of both feet to the ankles. At 22 months, the edema of her feet was firm, fibrotic, and pitting. Neither lymphatic vessel nor lymph nodes were seen by lymphoscintigraphy. There was no lymphedema in any other part of the body. Her parents had no lymphedema. At 24 months, her height and weight remained below the third percentile and her head circumference was at the tenth percentile. CT scan of brain, and hearing and vision, were normal. She had mild developmental delays attributed to the 7 surgeries and prolonged NICU stay in the first year of life.

Inheritance

Har-El et al. (1991) suggested autosomal recessive inheritance of choanal atresia and lymphedema in a Yemenite family.

Molecular Genetics

In affected members of a family with choanal atresia and lymphedema reported by Qazi et al. (1982) and Har-El et al. (1991), Au et al. (2010) identified a homozygous mutation in the PTPN14 gene (603155.0001). The mutation was ascertained by homozygosity mapping followed by candidate gene sequencing.

In a patient with bilateral choanal atresia and lymphedema, Bordbar et al. (2017) detected a homozygous frameshift mutation in the PTPN14 gene (603155.0002).