Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Rafiq, Muhammad Arshad; Leblond, Claire S; Saqib, Muhammad Arif Nadeem; Vincent, Akshita K.; Ambalavanan, Amirthagowri; Khan, Falak Sher; Ayaz, Muhammad; Shaheen, Naseema; Spiegelman, Dan; Ali, Ghazanfar; Amin-ud-din, Muhammad; Laurent, Sandra; Mahmood, Huda; Christian, Mehtab; Ali, Nadir; Fennell, Alanna; Nanjiani, Zohair; Egger, Gerald; Caron, Chantal; Waqas, Ahmed; Ayub, Muhammad; Rasheed, Saima; Forgeot d’Arc, Baudouin; Johnson, Amelie; So, Joyce; Brohi, Muhammad Qasim; Mottron, Laurent; Ansar, Muhammad; Vincent, John B; Xiong, Lan

doi:10.1186/s12881-015-0183-0

Table 1 Clinical features of affected members of families ANMR51, RQMR10 and ATM02. n.a. = not assessed

From: Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features

Family	ANMR51								RQMR10				ATM02
Patient ID	IV-5	IV-4	IV-3	V-3	V-1	V-6	V-7	V-8	VI-2	VI-3	VI-1^a	V-2	V-1	V-3	V-5
Sex	M	M	F	M	M	M	M	F	M	F	M	F	M	M	M
Age (Yrs)	25	27	17	20	15	>50	>50	>50	17	7	8	20	23	18	15
Neurodevelopment
Developmental delay (motor, cognitive, speech)	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
Intellectual Disability	Severe	Severe	Severe	Severe	Severe	Severe	Severe	Severe	Severe	Severe	Severe	Severe	Moderate	Moderate	Moderate
Language	Single words	Single words	Single words	Single words	Single words	Single words	Single words	Single words	Single words	No speech	Single words	Single words	Small sentences	Small sentences	Small sentences
Autistic behaviors	N^b	N^b	N^b	N^b	N^b	N^b	N^b	N^b	N^bc	N^b	N^b	Y	Y	Y	Y
Age 1^st walked	<2	<2	<2	<2	<2	<2	<2	<2	2	4	2	<2	2.5	2.4	2.0
Hypotonia?	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	yes	yes	yes
Coordination	poor	poor	poor	poor	poor	poor	poor	poor	poor	poor	poor	poor	poor	poor	poor
Facies
OFC (cm)	49	49	47	n.a.	n.a.	47.5	48	48	n.a.	n.a.	n.a.	n.a.	51	49	49
Thick eyebrows	n.a.	n.a.	n.a.	n.a.	n.a.	No	Yes	n.a.	Yes	No	n.a.	No	Yes	Yes	Yes
Prominent nasal bridge	n.a.	n.a.	n.a.	n.a.	n.a.	No	Yes	n.a.	No	No	n.a.	No	Yes	Yes	Yes
short philtrum	n.a.	n.a.	n.a.	n.a.	n.a.	Yes	Yes	n.a.	No	No	n.a.	No	Yes	Yes	Yes
wide or wave shaped palpebral fissures	n.a.	n.a.	n.a.	n.a.	n.a.	Yes	No	n.a.	No	No	n.a.	No	Yes	Yes	Yes
Prominent incisors	n.a.	n.a.	n.a.	n.a.	n.a.	n.d.	n.d.	n.a.	Yes	Yes	n.a.	Yes	Yes	Yes	Yes
Mild synophrys	n.a.	n.a.	n.a.	n.a.	n.a.	Yes	Yes	n.a.	Yes	Yes	n.a.	Yes	Yes	Yes	Yes
Eyes
Myopia	+	+	+	+	+	Blind	Blind	+	+	+	+	+	+	+	+
Retinopathy	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	+ retinal dystrophy	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.
Neutropenia	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	n.a.	-	Pan-cytopenia	n.a.	n.a.	+	n.a.	n.a.
Miscellaneous			Total loss of teeth		-	Prominent chin	-	-	Ptosis; hyperactivity			Pes planus & pes cavus; Truncal obesity	Pes planus hypoactive	Pes planus hyperactive recurrent skin infections	Pes planus; pica

^aNow deceased
^bthese individuals were aloof, isolated, not sociable; however there were no repetitive behaviors
^cHyperactivity also noted

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ISSN: 1471-2350

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