A Report on a Family with TMTC3-Related Syndrome and Review

Table 1

Phenotypic and genotypic features of patients reported with TMTC3 mutations.

Family	Ethnicity	No.	Psychomotor development	Speech development	ID	Hypotonia	Brain MRI findings	Autistic behaviour	Seizure	TMTC3 mutation	Reference
1	Egypt	1.1	Delayed	Delayed	+	+	Cobblestone lissencephaly, ventriculomegaly, encephalocele, brainstem hypoplasia, cerebellar dysplasia		GTC	c.1462delA/c.2617C > T	Jerber et al. [3]
2	Yemen	2.1	Delayed	Delayed	+	+	Cobblestone lissencephaly, ventriculomegaly, brainstem hypoplasia, cerebellar hypoplasia	+	GTC	c.1959_1960insTT	Jerber et al. [3]
		2.2	Delayed	Delayed	+	+	Cobblestone lissencephaly, ventriculomegaly, brainstem hypoplasia, cerebellar hypoplasia	+	GTC	c.1959_1960insTT	Jerber et al. [3]
3	Egypt	3.1	Delayed	No speech	+	+	Cobblestone lissencephaly, corpus callosum hypoplasia, brainstem hypoplasia, cerebellar hypoplasia, retrocerebellar cysts	−	Myoclonic	c.1686_1701del	Jerber et al. [3]
4	Lebanon	4.1	Delayed	No speech	+	+	Ventriculomegaly, corpus callosum hypoplasia, brainstem hypoplasia, cerebellar dysplasia, hypomyelination		−	c.199C > G	Jerber et al. [3]
		4.2	Delayed	No speech	+	+	Ventriculomegaly, corpus callosum hypoplasia, brainstem hypoplasia, cerebellar dysplasia, hypomyelination		−	c.199C > G	Jerber et al. [3]
5	Turkey	5.1	Delayed	Delayed	+	+	Cobblestone lissencephaly, ventriculomegaly	−	−	c.3G > A	Jerber et al. [3]
		5.2	Delayed	Delayed	+	+	Cobblestone lissencephaly	−	GTC	c.3G > A	Jerber et al. [3]
6	USA	6.1	Delayed	No speech	+	+	Cobblestone lissencephaly, ventriculomegaly, encephalocele	−	Infantile spasms	c.1151G > A/c.2521dupA	Jerber et al. [3]
7	Pakistan	7.1	−	−	+		Bilateral periventricular heterotopia	−	Nocturnal seizures	c.432G > C/c.2183T > A	Farhan et al. [4]
		7.2	−	−	+		Bilateral periventricular heterotopia, venous anomaly	−	Nocturnal seizures	c.432G > A/c.2183T > A	Farhan et al. [4]
		7.3	−	Delayed	+		Bilateral periventricular heterotopia, Arnold-Chiari type I malformation	−	Nocturnal seizures	c.432G > A/c.2183T > A	Farhan et al. [4]
		7.4	−	−	+		Normal MRI	−	Nocturnal seizures	c.432G > A/c.2183T > A	Farhan et al. [4]
8	Lebanon	8.1	Delayed	No speech	+	+	Arnold-Chiari type I malformation	+	Nocturnal seizures	c.211C > T	This study
		8.2	Delayed	No speech	+	+	Normal MRI	+	Nocturnal seizures	c.211C > T	This study

Note: +: present sign; −: absent sign; GTC: generalized tonic-clonic.