BackgroundPotocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders.Case presentationWe describe a patient from Sri Lanka that was referred for genetic assessment at 4 years of age due to subtle facial dysmorphism and expressive language impairment. She was diagnosed with Potocki–Lupski syndrome through multiplex ligation probe amplification. She carried two duplications; one in 17p11.2 consistent with Potocki–Lupski, and one in Xq including the region for X-linked intellectual disability.ConclusionDespite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki–Lupski syndrome. This is the first diagnosed patient in Sri Lanka.

ObjectiveActivating mutations in the KRAS gene, found in approximately 53% of metastatic colorectal cancer (mCRC) cases, can render epidermal growth factor receptor (EGFR) inhibitors ineffective. Regional differences in these mutations have been reported. This is the first study which aims to describe the pattern of KRAS mutations in a Sri Lankan cohort of mCRC patients.ResultsThe KRAS genotypes detected in mCRC patients which have been maintained in an anonymized database were retrospectively analyzed. Of the 108 colorectal tissue samples tested, 25 (23.0%) had KRAS mutations. Overall, there were 68 (63.0%) males and 40 (37.0%) females. Among the KRAS positive cases, there were 14 (56.0%) males and 11 (44.0%) females. Their age distribution ranged from 29 to 85 years with a median age of 61 years. There were 15 patients (60.0%) with point mutations in codon 12 while 10 (40.0%) had a single mutation in codon 13. The most common KRAS mutation identified was p.Gly13Asp (40.0%), followed by p.Gly12Val (24.0%). Other mutations included p.Gly12Cys (12.0%), p.Gly12Ser (12.0%), p.Gly12Asp (8.0%), and p.Gly12Arg (4.0%). The codon 13 mutation was a G>A transition (40.0%), while G>T transversions (32.0%), G>A transitions (24.0%), and G>C transversions (4.0%) were found in the codon 12 mutations. The frequency of KRAS mutations was similar to that reported for Asian patients. However, in contrast to several published studies, the G>A transition in codon 12 (c.35G>A; p.Gly12Asp), was not the most common mutation within codon 12 in our cohort. This may be a reflection of the genetic heterogeneity in the pattern of KRAS mutations in mCRC patients but valid conclusions cannot be drawn from these preliminary findings due to the small size of the study sample.

IntroductionAngelman syndrome, a neurodevelopmental genetic disorder associated with abnormalities in chromosome15q11-q13, is inherited from the mother. Epilepsy is seen in 85 % of children with Angelman syndrome within the first 3 years of life and is often severe and difficult to control.Case presentationWe report a case of a baby boy who presented at 13 months of age with a history of acute gastroenteritis and marked gross motor and speech developmental delay. He was found to have a microdeletion of the chromosome 15q11.2 region confirming the diagnosis of Angelman syndrome. He was the first child born to healthy, unrelated Sinhalese parents. The child had generalized extensor spasms involving both upper limbs and the head beginning at the age of 9 months, and he developed flexor and extensor spasms at the age of 13 months. His facial appearance was characteristic of Angelman syndrome. His electroencephalographic pattern did not correspond to any other of the patterns previously described in patients with Angelman syndrome. He had extensor and flexor spasms, which are rarely described in patients with Angelman syndrome. These symptoms responded to a combination of valproic acid and clonazepam.ConclusionsAngelman syndrome due to a microdeletion of the chromosome 15q11.2 region is often not diagnosed in infancy. Extensor and flexor spasms are not typically described seizure types in Angelman syndrome, and our patient’s seizures responded well to a combination of valproic acid and clonazepam. Clinicians should suspect other possible seizure types in patients with Angelman syndrome and should treat the patient appropriately.

A free ranging female common Mormon (Papilio polytes romulus) butterfly was observed laying eggs on a Citrus aurantiifolia (Family: Rutaceae) plant in a home garden in Battaramulla. 16 eggs were collected and reared in the lab. The duration and measurements of each stage were recorded. After eclosion the sex and wingspan of all adult butterflies were recorded and they were released back to the wild. Pupae were observed in two colours: green and brown. Out of 16 pupae, 12 were green (75%) and four were brown (25%). The four brown pupae gave rise to two males (50%) and two females (50%). The 12 green pupae gave rise to 10 males (83%) and two females (17%). The sex ratios regardless of the pupal colour showed male dominance with 12 males (75%) and four females (25%). All four females were of the romulus form. A strong relationship between pupal colour and substrate texture was observed, but no relationship between pupal colour, sex and sex ratios was seen.

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