A novel nonsense mutation in WNK1/HSN2 associated with sensory neuropathy and limb destruction in four siblings of a large Iranian pedigree

Table 1 Clinical features and results of genetic analysis of four affected individuals with WNK1/HSN2 mutation

	HSAN2- IV:11	HSAN2-IV:12	HSAN2-IV:13	HSAN2-IV:14
Age at onset (y)	6 months	2	7	10
Present age (y)	36	32	30	27
Sex	Female	Male	Female	Female
First symptoms	Consecutive limb ulcerations and infections	Consecutive limb ulcerations and infections	Consecutive limb ulcerations and infections	Consecutive limb ulcerations and infections
Self mutilation	Yes	Yes	Yes	Yes
Amputation	Bilateral transtibial	Bilateral transtibial	Left 3rd and 5th toes	Left 5th toe
Sensory involvement of distal extremities
Deep tendon reflexes	Reduced	Reduced	Reduced	Reduced
Pain perception	Absent	Absent	Severely Reduced	Severely Reduced
Touch perception	Absent	Absent	Severely Reduced	Severely Reduced
Temperature sensation	Absent	Absent	Severely Reduced	Severely Reduced
Vibration sensation	Reduced	Reduced	Reduced	Reduced
Position sensation	Reduced	Reduced	Reduced	Reduced
Pressure sensation	Reduced	Reduced	Reduced	Reduced
Motor dysfunction	No	No	No	No
Autonomic involvement
Gastroesophageal reflux	No	No	No	No
Constipation	Yes	No	No	No
Orthostatic hypotension	No	No	No	No
Episodic hypertension	No	No	No	No
Recurrent fever episodes	No	No	No	No
Hearing impairment	No	No	No	No
Skin hyperkeratosis	Yes	Yes	Yes	Yes
Lack of fungiform papillae	No	No	No	No
Mental development	Normal	Normal	Normal	Normal
Genotype	MM	MM	MM	MM

ISSN: 1471-2377