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Table 1 Clinical features of MCLMR patients presented in order of mutation position in KIF11

From: No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome

Patient Reference Nucleotide variant NM_004523.3 Exon Protein alteration Inheritance Microcephaly (SD) Eye changes Lymphedema Intellectual disability Additional clinical features Phenotype or the same mutation described in
Patients with mutation
I-10 LE-401-10 c.245A>T 3 p.(Tyr82Phe) de novo −7.0 Chorioretinitis Feet Severe Severe sensorineural hearing loss, proteinuria, upslanting palpebral fissures, broad nose with rounded tip, anteverted nares, long philtrum with thin upper lip and pointed chin -
II-2 LE-09-2 c.308+1G>T 3 p.(Thr71Argfs*8) AD −4.0 Normal electroretinography but discrete narrowing of blood vessels - - - -
II-10 LE-09-10 c.308+1G>T 3 p.(Thr71Argfs*8) AD −3.0 Retinal dystrophy Mild Moderate Scoliosis -
III-10 LE-448-10 c.436A>T 5 p.(Lys146*) AD −4.4 Bilateral persistent hyperplastic primary vitreous, bilateral retinal detachment, bilateral glaucoma and inoperable retinal detachment right eye Feet - Lensectomy, vitrectomy right eye and long philtrum -
IV-1 LE-152-1 c.630del 6 p.(Tyr211Ilefs*4) AD −2.5 - + - - -
IV-10 LE-152-10 c.630del 6 p.(Tyr211Ilefs*4) AD −5.9 Retinal dystrophy Mild Moderate Facial dysmorphism -
IV-11 LE-152-11 c.630del 6 p.(Tyr211Ilefs*4) AD −5.9 Unknown, wears glasses - Moderate Facial dysmorphism -
V-1 LE-114-1 c.790-3A>G 8 p.(Val264Argfs*26) AD Within normal limits - - - - -
V-11 LE-114-11 c.790-3A>G 8 p.(Val264Argfs*26) AD −2.2 Microphthalmos - - - -
V-12 LE-114-12 c.790-3A>G 8 p.(Val264Argfs*26) AD −2.9 Bilateral falciform retinal folds, microphthalmos, visual deficit and glaucoma Feet as a child Moderate Sloping forehead Young ID., et al., 1987
V-100 LE-114-100 c.790-3A>G 8 p.(Val264Argfs*26) AD −6.6 Falciform retinal folds Hands and feet Moderate Clinodactyly and facial dysmorphism -
V-101 LE-114-101 c.790-3A>G 8 p.(Val264Argfs*26) AD −2.3 - - Mild Left Club foot and dyslexia -
VI-10 LE-103-10 c.1985T>A 15 p.(Leu662*) AD −5.0 Bilateral retinal degeneration Feet Mild - -
VI-2 LE-103-2 c.1985T>A 15 p.(Leu662*) AD - - Mild Mild - -
VII-10 LE-411-10 c.2005del 16 p.(Glu669Lysfs*7) de novo −3v8 Retinal dystrophy - Moderate Pachygyria -
VIII-10 LE-125-10 c.2160+1G>A 16 Altered Splicing de novo −9.2 + + Moderate Constipation and facial dysmorphism -
IX-10 LE-406-10 c.2244_2247dup 17 p.(Val750*) Sporadic −3.0 Persistent hyperplastic primary vitreous posterior and retinal atrophy Feet Moderate Facial dysmorphism -
X-10 LE-413-10 c.2304_2305del 18 p.(His768Glnfs*7) de novo −5.4 Retinal dystrophy - Severe - Ostergaard P., et al., 2012
XI-10 LE-08-10 c.2547+2T>C 18 Altered Splicing AD −7.3 Subtle atrophic pigment epithelial changes temporally from the optic disc on the right eye and atrophic changes prominent on the left eye - Moderate - Ostergaard P., et al., 2012
XI-13 LE-08-13 c.2547+2T>C 18 Altered Splicing AD −4.4 Unknown - Moderate Nasal speech and micrognathia Ostergaard P., et al., 2012
XI-100 LE-08-100 c.2547+2T>C 18 Altered Splicing AD −8.3 Microphthalmia, chorioretinopathy and retinal dystrophy Feet Moderate Syndactyly, cardiopathy, pachygyria and facial dysmorphism Casteels I., et al., 2001, Ostergaard P., et al., 2012
XI-101 LE-08-101 c.2547+2T>C 18 Altered Splicing AD −4.5 Bilateral corioretinal dystrophy + Moderate - Ostergaard P., et al., 2012
XI-102 LE-08-102 c.2547+2T>C 18 Altered Splicing AD −3.5 - Peri-oral Moderate Micrognathia, full nose tip, diathema of teeth and dysplastic ears Ostergaard P., et al., 2012
XII-10 LE-414-10 c.2723dup 19 p.(Leu909Alafs*2) de novo −5.5 Retinal dystrophy + Severe - Fryns JP., et al., 1995
XIII-10 LE-415-10 c.2782_2783dup 20 p.(Gln928Hisfs*13) de novo −3.8 Chorioretinal atrophy - Moderate - -
XIV-10 LE-104-10 c.2922G>A 20 Altered Splicing de novo −5.3 Myopic chorioretinal dysplasia Hands and feet - Fairly broad nasal root, prominent ears and a narrow palate -
Patients without a mutation
XV-10 LE-87-10 No mutation - - Sporadic −6.9 Bulls eye maculopathy Acute oedema at birth, resolved; bilateral lymphedema persisted Severe Hearing loss-bilateral sensorineural and facial dysmorphism -
XVI-10 LE-88-10 No mutation - - Sporadic −8.1 Bilateral Falciform retinal folds Mild, feet as a child Moderate Epilepsy and facial dysmorphism -
XVII-10 LE-90-10 No mutation - - Sporadic −4.6 - + - Lissencephaly, coronal craniosynostosis and ADHD -
XVIII-10 LE-91-10 No mutation - - Sporadic −3.9 - Feet and legs Mild Mild hypoplastic aortic arch, secundum atrial septal defects, mild motor delay, mild speech delay, ADHD and hyperlaxity -
XIX-10 LE-121-10 No mutation - - Sporadic −3.0 - Legs and face Moderate ADHD on methylphenidate treatment, hyperlaxity, bilateral Madelung deformity and egg allergy -
XX-10 LE-393-10 No mutation - - Sporadic −5.0 Blind Lower limbs Severe Cerebral atrophy, encephalopathy, cervicofacial lymphatic malformations, chylothorax, pleural effusion, hydrops fetalis and intestinal lymphangiectasia -
XXI-10 LE-412-10 No mutation - - Sporadic −2.1 - Feet Moderate Pectus excavatum, epicanthic folds and small ears -
XXII-10 LE-417-10 No mutation - - Sporadic −4.4 Retinal dystrophy - Servere Epilepsy -
XXIII-10 LE-428-10 No mutation - - Sporadic −10.0 Chorioretinal dysplasia, myopia, nystagmus horizontale ODG Mild Severe Arterial pulmonary hypertension, atrio-ventricular complete canal, motor delay, simplified gyral pattern, autistic behavior, ADHD, small for height (−4DS) and weight (−4DS), and facial dysmorphism. -
  1. + = present, − = absent, AD = autosomal dominant, ¶ = mRNA tested, ADHD = Attention deficit hyperactivity disorder.
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