Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

BMC Medical Genetics

Table 2 Clinical and diagnostic characteristics of two SEPT9 variant carriers (II.3 and III.4) compared to an unaffected family member (II.2)

Subject	Sex	Genetics	Clinical features						Nerve conduction studies
		Nucleotide Change	Age at Onset	Symptom at Onset	Amyotrophy	Weakness	Sensory loss	DTR	Ulnar nerve				Peroneal nerve		Sural nerve
		Nucleotide Change	(y)		UL/LL	UL/LL	UL/LL	UL/LL	CMAP	DL/MNCV	SNAP	SCV	CMAP	DL/MNCV	SNAP	SCV
II.3†	F	SEPT9, c.1406 T > C	40^#	ataxia, hyp-aesthesia	++/++	+/+	+/+	1/0	5.3	4.6/37	NR	31	1.3	7.2/30	NR	NR
III.2	M	–	N/A	N/A	−/−	−/−	−/−	2/2	8.9	2.9/62	17.8	50	10.1	3.8/50	17.8	47
III.4	M	SEPT9, c.1406 T > C	20^#	ataxia, hyp-aesthesia	++/++	−/−	−/+	1/1	6.0	5.2/21	NR	27	NR	NR	NR	NR

Index case (†), M male, F female, LL lower limbs, UL upper limbs; amyotrophy (none, −; slight, +; moderate, ++; severe, +++); weakness (none, −; slight, +; moderate, ++; severe, +++); DTR, deep tendon reflexes, (areflexia 0, hyporeflexia 1, normal 2), NA not applicable. (^#) approximately, Age at onset in years (y) CMAP compound muscle action potential [mV], SNAP sensory nerve action potential [μV], DL distal latency [ms], MNCV motor nerve conduction velocity [m/s], SCV sensory conduction velocity [m/s], NR no response. – none. Chromosomal position (GRCh37/hg19) 17:75488782, Reference sequence used: NM_006640.4

ISSN: 1471-2350