A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

Winczewska-Wiktor, Anna; Badura-Stronka, Magdalena; Monies-Nowicka, Anna; Nowicki, Michal Maciej; Steinborn, Barbara; Latos-Bieleńska, Anna; Monies, Dorota

doi:10.1186/s12883-016-0554-y

Table 1 Clinical findings in patients with mutation in the N-terminal of β-catenin. * Previously published patients [2], n.e. not examined, n.r. not recorded

From: A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

	Our Patient	Patient 5*	Patient 10*	Patient 13*
Gender	M	F	F	M
Gestational weeks	39	40	40	39
Apgar scores	10	9/10/10	n.r.	10/10
Birth weight [g]	2900	3450	3300	3160
Birth length [cm]	53	51	50.8	49
Age at last examination [y]	11	5 7/12	4	5 6/12
Height [cm]	150	108	104.5	112
Weight [kg]	46	15	14.15	17.2
BMI [kg/m2]	20.4	12.9	13.0	13.7
OFC [cm]	51	47.3	46	48.5
Microcephaly	+	+	+	+
Croniofacial dysmorphism
broad nasal tip	+	+	+	(+)
small alae nasi	+	+	+	-
long and/or flat philtrum	−/+	+/+	+/+	−/+
thin upper lip vermillion	+	+	+	+
Developmental and neurological abnormalities
Truncal hypotonia	+	+	+	+
Peripheral hypertonia/spasticity	+	+ atactic gait	+	+ legs > arms
Motor delay Crowling (months) Free walking	moderate	severe	moderate	moderate
	did not crawl	24	12	25
	3 years	not yet, walking frame	4 years, falls a lot	not yet, walking frame
Speech impairment	moderate, unclear speech	severe, few words (30–34), sign language	speech apraxia, ~50 words	short sentences at 6 years
Basic speech comprehension	+	+	+	+ good
Intellectual disability	+	+	+	+ (no formal test available)
Regression	+ speech	?	-	-
Behavioral characteristics	temper tantrums/crying, friendly personality, aggression, frustration, anxiety, sleep disturbances, stereotypic movements	sleep disturbances, stereotypic movements, autoagression	normal	normal, friendly, sensitive to loud noises
Seizures	-	-	-	-
EEG	during episodes diffused fast background activity	normal	normal	n.e.
Brain MRI	arachnoid cyst, enlarged Sylvius sulcus	normal	basically normal	normal
Hearing loss	-	-	-	-
Vision	hyperopia, astigmatism, strabismus	hyperopia, intermittent strabismus	normal	strabismus
Others
Internal abnormalities	-	-	-	-
Frequent infections	-	-	-	+ (infancy)
Miscellaneous	ginecomastia, inverted nipples	-	feeding difficulties	-
Hands	slender and long fingers	thin fingers, short distal phalanges	normal	clinodactyly V, hand and feet
Feet	sandal gap, long toes	flat feet	normal	pes equines

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ISSN: 1471-2377

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