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Table 1 Clinical features of individuals with a mutation in the ADNP gene

From: Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

Intellectual Disability

100.0%

Speech delay

99%

Motor delay

96%

Autism Spectrum Disorder including autistic features

93%

Feeding and gastrointestinal problems1

83%

Behavioral problems

78%

Visual problems2

74%

Sleep problems

65%

Hand and foot abnormalities3

62%

Brain abnormalities including seizures

62%

Musculoskeletal system4

55%

Frequent infections

51%

Attention Deficit and Hyperactivity Disorder

44%

Congenital heart disease5

38%

Ear–nose–throat system6

32%

Urogenital problems7

28%

Short stature

23%

Endocrine system8

25%

  1. 1Including gastric tube feeding, oral movement problems, problems swallowing liquids, aspiration difficulties, lack of satiation, frequent vomiting, gastroesophageal reflux disease, constipation, and obesity. 2Including strabismus, nystagmus, ptosis, hypermetropia, myopia, cerebral visual impairment, and colobomata. 3Including nail anomalies, sandal gap, broad halluces, 2–3 toe syndactyly, brachydactyly, single palmar crease, prominent distal phalanges, prominent interphalangeal joints, polydactyly, interdigital webbing, 2–3 toe syndactyly, 5th finger clinodactyly, small fifth finger or absent distal phalanx of fifth finger, tapering fingers, broad fingers, fetal fingertip pads. 4Including scoliosis, joint laxity, hip dysplasia, Perthes disease, hip dislocation, pectus excavatum or carinatum and abnormal skull shape such as plagio-, trigono-, or brachycephaly. 5Including atrial septal defect, mitral valve prolapse, ventricular septal defect, patent foramen ovale, patent ductus arteriosus, tetralogy of Fallot, and unspecified cardiac defects. 6including narrow ear canals, hearing loss, frequent ear infections, ventilation tubes (grommets), adenoidectomy, tonsillectomy, and sleep apnea. 7Including renal anomalies, small genitalia, and cryptorchidism. 8Including signs of early puberty, growth hormone deficiency, and thyroid hormone problems. This table is based on data reported in our paper describing the clinical manifestation of the Helsmoortel–Van der Aa syndrome [45]
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Clinical Epigenetics

ISSN: 1868-7083

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